Renal agenesis and dysplasia are frequently regarded by pathologists, even pediatric pathologists, as sporadic malformations. We report six fetal autopsy cases of hereditary renal adysplasia (HRA): two pairs of siblings, one case with paternal unilateral renal agenesis, and one case with an autosomal balanced 6p/19q translocation. The main purpose of ...

Congenital glenoid dysplasia is a rare congenital condition of the shoulder. We report the case of a 6-year-old girl that was referred to our institution for restricted motion of both shoulders. Radiological examination revealed bilateral glenoid dysplasia. At the time of the child's examination, her mother also complained of shoulder ...

Fibrous dysplasia of the temporal bone is a very unusual condition and its association with an abnormal lymph node has not been previously reported. Although it is benign condition causing conductive deafness, cholesteatoma may develop insidiously as illustrated by this case. We recommend regular long term follow up and surgical ...

BACKGROUND: Malignancies in fibrous dysplasia are rare. Most cases have been published as single case reports. The role of radiation therapy in the occurrence of sarcoma in fibrous dysplasia is still controversial. METHODS: The Mayo Clinic files were reviewed, including Mayo Clinic cases and consultation cases, to collect all cases ...

The soft tissue myxoma of the oral cavity is a rare neoplasm. We report a case arising from the palate in a 15-year-old male. A review of the literature is presented with clinicopathologic, immunohistochemical, and ultrastructural data confirming the diagnosis. The pathogenesis and differential diagnosis are discussed with reference to ...

A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% ...

The skeletal dysplasias (osteochondrodysplasias) comprise a heterogeneous group of disorders that are characterized by generalized abnormalities of skeletal growth and development. Of approximately 125 well-described skeletal dysplasias, about 50 are clinically apparent and identifiable at birth. The prevalence of these dysplasias in the newborn is quite frequent and has been ...

The results of a ten-year follow-up study on gastric dysplasia (GD) are reported. A total of 260 cases were diagnosed, 125 of which had an adequate follow-up, 81 Low Grade Dysplasia (LGD) and 44 High Grade Dysplasia (HGD). Patients with LGD were younger than patients with HGD, while no significant ...

Severe unilateral varus deformity of the distal end of the femur secondary to a focal fibrous lesion is reported. It is a malformative process rare at this level, this being the first report of it in the radiological literature. The conventional radiograph is pathognomonic and CT is useful in the ...

Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We ...

Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, but her brother and ...

An association between fibrous dysplasia and myxomas (soft-tissue neoplasms of mesenchymal origin) has been described in the literature. The authors report another such case of fibrous dysplasia/myxoma coexistence: a patient with polyostotic fibrous dysplasia who developed right anterior thigh pain from a solitary intramuscular myxoma. After a thorough review of ...

We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had ...

We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are ...

We report 10 cases of a distinctive benign fibrous lesion characterized by the presence of abundant hyalinized collagen with psammomatous or dystrophic calcifications and a lymphoplasmacytic infiltrate. The lesions were present from 2 months to 10 years before resection and ranged in size from 2.5 to 15 cm. They involved ...

The patient described in this report had an apical radiolucency in the incisor region of the mandible. This had a similar appearance to an extensive periapical granuloma; misdiagnosis might easily have been made, especially since there had been a history of previous trauma to the region. The incisors were found ...

Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in ...

Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. ...

Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial ...

Klippel-Feil syndrome is a clinical triad consisting of short neck, decreased head mobility, and low occipital hairline. Additional deformities of the musculoskeletal and the neural system may also be present. Otological defects occur in about one third of these patients. They are seen either unilaterally or bilaterally and accompanied by ...

We report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior ...

Tibial dysplasia is a rare congenital deformity which must be distinguished from the more common fibular dysplasia. We have reviewed 24 patients with 35 affected legs. The classification system of Kalamchi and Dawe (1985) was found to be preferable to that of Jones, Barnes and Lloyd-Roberts (1978) as a guide ...

A rare case of multicystic dysplasia in half of a horseshoe kidney is presented. Proper evaluation led to a modified surgical approach necessary for adequate exposure, division of the isthmus, and removal of the diseased component. Considerations applicable to the treatment of multicystic dysplasia and renal fusion are discussed. The ...

We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. ...

We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a ...

Cleidocranial dysplasia is associated with the formation of many supernumerary teeth which usually fail to erupt. In later life, cysts may form around the embedded teeth. The following report describes the management of such a case with a method which promotes satisfactory prosthodontic rehabilitation.

This communication reviews the literature on fibrous dysplasia of the jaws particularly the available published reports on this condition from Africa. It reveals that few cases appear to have been reported from Africa, reflecting the lack of research work and case reports. The majority of these cases are generally reported ...

Of the various entities producing adrenal hyperfunction, nodular adrenal hyperplasia is rarely described, however, recent reports have established it as a distinct cause of Cushing's syndrome. Although the etiology of this disease remains uncertain, two distinct forms are recognised, namely: macronodular hyperplasia and micronodular dysplasia. Establishing the diagnosis preoperatively is ...

We report two brothers with anhidrotic ectodermal dysplasia (AED). AED is characterised by a triad of inability to sweat dental abnormalities and hypotrichosis. Although rare, it is important to diagnose this condition as it may lead to considerable morbidity and mortality if unrecognised. The typical features of this entity as ...

The importance of endocervical glandular atypia in a cervicovaginal Papanicolaou smear has not been fully investigated. Between July 1988 and June 1989, 21,930 cervicovaginal smears were reviewed by the Massachusetts General Hospital Cytopathology Laboratory. One hundred smears with endocervical atypia were identified, an incidence of 0.46%. Follow-up was available on ...

A clinicopathological and immunohistochemical study of 12 cases of osteofibrous dysplasia (OFD), two cases of differentiated adamantinoma, and five cases of adamantinoma of long bones is presented. Although OFD and differentiated adamantinoma showed similar radiologic findings, differentiated adamantinoma was more likely to be a recurrent lesion than osteofibrous dysplasia and ...

In view of the still disputed relationship between adult adamantinoma and osteofibrous dysplasia in children, a unique case of adamantinoma, indicating a direct relationship between the two lesions, is presented with a review of the literature. The patient was a six-year-old boy who complained of pain and swelling in the ...

We report the case histories, radiographic and computed tomographic studies, and histologic findings of two children with metachondromatosis who developed avascular necrosis (AVN) of the femoral ossific nucleus. The first was a 9-year-old boy with involvement of both femoral heads; the second was an 8-year-old girl with involvement of her ...

The clinicopathological features of 130 cases of leukoplakia and 8 patients with erythroplakia of the oral mucosa are reviewed. Cases were selected on the basis of definitions agreed to at an international seminar. The patients with leukoplakia were predominantly men, (1.5:1), most were White (86.2%) and the peak age frequency ...

A rare case of disproportionate short stature suggestive of spondylo-epiphyseal dysplasia tarda is reported and relevant literature reviewed. It is emphasized that its radiological features show a marked similarity to ochronotic spine, with which it is therefore commonly mistaken. An indeterminate pigment was observed in the liver biopsy in this ...

This article reviews the present clinical, radiographic and histologic features of fibrous dysplastic lesions of the jaws. A case is presented of an apparently reactivated fibrous dysplastic jaw lesion, with evidence of cystic degeneration, in a 33-year-old female school-teacher who was first seen at the Department of Dental Surgery, University ...

Trichotillomania is a form of traction alopecia resulting from compulsive repetitive removal of one's own hair. This entity can mimic the clinical appearance of many other forms of hair loss including alopecia areata, androgenetic alopecia, and tinea capitis. It is important to differentiate trichotillomania from other forms of alopecia because ...

Twenty cases of microgeodic disease affecting the hands or feet of children are presented, and the relevant literature is reviewed. Clinical features include chilblain-like appearance and tenderness of the involved digits. Radiographically patchy osteoporosis of the diaphysis and/or sclerosis of the diaphysis and rarefaction of the metaphysis with cortical erosion ...

Retroversion of the proximal femur is associated with a number of acquired conditions but is unusual in a congenital form. It is even more unusual to be associated with acetabular dysplasia. A 38-year-old woman with bilateral hip pain had roentgenographic evidence of acetabular dysplasia with valgus neck-shaft angles. Physical findings ...

We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe ...

Fibrous hamartoma of infancy is a benign, uncommon, predominantly fibrous tissue proliferation arising from the subcutaneous tissue during the first 2 years of life. We report a case of fibrous hamartoma of infancy in the scrotum. Clinical and pathological characteristics, including immunohistochemical findings, as well as management are discussed with ...

We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a ...

The patient in this report is a young boy with hypohydrotic ectodermal dysplasia. His case is exceptional in that anodontia was complete in both deciduous and permanent dentitions. A brief review of this condition is presented along with the prosthetic management of the case which emphasizes the need for regular ...

Two new patients with pseudodiastrophic dysplasia are reported. Clinical and radiologic features, genetics, as well as, course and management of the disease are described for these two patients and seven others reported in the literature. Based also on histological findings, special emphasis is put on differential diagnosis with diastrophic dysplasia.

Congenital ball-and-socket ankle deformity is a complex pediatric orthopedic deformity that usually is associated with a short limb, a short fibula, distal tibial dysplasia, rearfoot coalition, and ray deficiency. The author reviews the literature on this orthopedic complex, presents two cases, and discusses the practical clinical management of this syndrome.

Fibrous histiocytomas (FHs) of the oral cavity are exceedingly rare. We report a case of fibrous histiocytoma located in the soft palate of an 11-year-old male. A review of the English literature shows only 4 previously reported cases in this location. This report includes an overview of the clinical and ...

Two cases of orofacial mucormycosis are reported. The first patient represents the typical progression of rhinocerebral mucormycosis with infiltration of the sinuses, the orbit, and the brain. The second patient had a tumorous maxillary lesion resembling fibrous dysplasia clinically and radiographically. Microscopically, the fungal infection in case 2 was associated ...